CEP290 (Centrosomal Protein 290)

Centriolar satellites (CS), membrane-less granules around the centrosome, are involved in protein trafficking to and from the centrosome and centrosomal function, and regulate primary cilia. We show that Kif9 loss causes CS aggregation near the centrosome, leading to defects in cilia length and altering the levels of key primary cilia proteins like TALPID3, CEP131, CEP170, and CEP290.

Furthermore, cryo-electron tomography (cryo-ET) revealed that AKAP350 fibrillar clusters form a three-dimensional network of entangled filaments, a structure significantly altered by DNase-I treatment. Overall, our findings suggest AKAP350 forms fibrillar clusters that serve as nucleoprotein scaffolding complexes in human cells.

P1/2, N=22, Active, not recruiting, Ocugen | Trial completion date: Dec 2024 --> Mar 2027 | Trial primary completion date: Dec 2024 --> Mar 2027

Eventually, expression of SNRPB and CEP290 was confirmed in B cells. The prognostic signature comprised of SNRPB and CEP290 based on ERMs-DEGs was established, providing a theoretical basis and reference value for DLBCL research.

Furthermore, we found that CNKSR2 interactors were highly enriched in de novo variants associated with intellectual disability and autism spectrum disorder. Our findings establish a connection between CNKSR2 and the centrosome, and offer new insights into the underlying mechanisms of neurodevelopmental disorders.

P1/2, N=22, Active, not recruiting, Ocugen | Recruiting --> Active, not recruiting | N=124 --> 22

This study offers insights into the mutation characteristics of cervical cancer patients and identifies potential therapeutic.

We identify phosphatidylinositol-5-phosphate 4-kinase type 2 alpha (PIP4K2a) as an upstream regulator of MIF, which interacts with and phosphorylates MIF at S91 to increase its interaction with 14-3-3ζ, resulting in its nuclear translocation and transcription regulation. This study suggests that MIF is a key player in cilia biogenesis and a novel transcriptional regulator in homeostasis, which forward our understanding of how MIF is able to carry out several nonoverlapping functions.

DNA- and RNA-based screening systems may be useful for detecting tyrosine kinase fusion genes in specific fusion-negative sarcomas and identifying key therapeutic targets, leading to possible breakthroughs in the treatment of bone and soft tissue sarcomas. Given that current DNA sequencing misses fusion genes, RNA-based screening systems should be widely considered as a worldwide test for sarcoma. If standard treatments such as chemotherapy are not effective, or even if the sarcoma is of bone, RNA sequencing should be considered to identify as many therapeutic targets as possible.

P1/2, N=124, Recruiting, Ocugen | Trial completion date: Feb 2024 --> Dec 2024 | Trial primary completion date: Feb 2024 --> Dec 2024

In addition, CRB3-depleted cells are unresponsive to the activation of the Hh signaling pathway, while CRB3 regulates the Wnt signaling pathway. Therefore, our studies reveal the molecular mechanisms by which CRB3 recognizes Rab11-positive endosomes to facilitate ciliogenesis and regulates cilium-related signaling pathways in tumorigenesis.

The signature could be an independent factor for the prognosis of PTC, and we built a nomogram to carry out a quantitative study. In a word, the hub genes we explored in the study deserved more basic and clinical research.